#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
BCOR	54880	genome.wustl.edu	37	X	39937175	39937175	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chrX:39937175G>C	ENST00000378444.4	-	2	236	c.8C>G	c.(7-9)tCa>tGa	p.S3*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.S3*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.S3*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.S3*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	3					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGGTTGCTGAGAGCATGTC	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													111.0	87.0	96.0					X																	39937175		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.8C>G	X.37:g.39937175G>C	ENSP00000367705:p.Ser3*		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S3*	ENST00000378444.4	37	c.8	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.617001	0.97709	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000412952	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.2594	18.4322	0.90630	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	.	S	-	2	0	BCOR	39822119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.292000	0.77174	0.513000	0.50165	TCA	BCOR	-	NULL	ENSG00000183337		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	35	0.00	0	G	NM_017745		39937175	39937175	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	nonsense	21	38.24	13	SNP	1.000	C
ARHGEF9	23229	genome.wustl.edu	37	X	62894024	62894024	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chrX:62894024G>A	ENST00000253401.6	-	6	1618	c.818C>T	c.(817-819)gCt>gTt	p.A273V	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.A271V|ARHGEF9-IT1_ENST00000420917.1_RNA|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.A171V|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.A252V|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.A220V|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.A44V	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	273	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GACAGCCAAAGCAGCTGCCAC	0.453																																						dbGAP											0													91.0	67.0	75.0					X																	62894024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.818C>T	X.37:g.62894024G>A	ENSP00000253401:p.Ala273Val		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A273V	ENST00000253401.6	37	c.818	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.382382	0.95967	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.61	5.61	0.85477	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	H	0.95679	3.705	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94112	0.7372	10	0.87932	D	0	.	17.0872	0.86614	0.0:0.0:1.0:0.0	.	220;271;273;273	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	V	273;271;220;171;44;252	ENSP00000253401:A273V;ENSP00000364012:A271V;ENSP00000399994:A220V;ENSP00000364004:A171V;ENSP00000404478:A44V;ENSP00000364006:A252V	ENSP00000253401:A273V	A	-	2	0	ARHGEF9	62810749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.350000	0.79820	0.600000	0.82982	GCT	ARHGEF9	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000131089		0.453	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	31	0.00	0	G			62894024	62894024	-1	no_errors	ENST00000253401	ensembl	human	known	69_37n	missense	35	40.68	24	SNP	1.000	A
CACNA1H	8912	genome.wustl.edu	37	16	1251677	1251677	+	Missense_Mutation	SNP	C	C	A	rs369331588		TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr16:1251677C>A	ENST00000348261.5	+	9	1475	c.1227C>A	c.(1225-1227)ttC>ttA	p.F409L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.F409L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.F409L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	409					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCTCCTTCTTCATGATCAACC	0.627																																						dbGAP											0													34.0	37.0	36.0					16																	1251677		2155	4277	6432	-	-	-	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1227C>A	16.37:g.1251677C>A	ENSP00000334198:p.Phe409Leu		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.F409L	ENST00000348261.5	37	c.1227	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025932	0.75390	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98120	-4.73;-4.73	3.72	3.72	0.42706	Ion transport (1);	0.185998	0.48286	D	0.000195	D	0.98557	0.9518	M	0.82193	2.58	0.31411	N	0.675465	D;D	0.71674	0.998;0.997	D;D	0.80764	0.987;0.994	D	0.97338	0.9955	10	0.87932	D	0	.	14.6569	0.68838	0.0:1.0:0.0:0.0	.	409;409	O95180-2;O95180	.;CAC1H_HUMAN	L	409	ENSP00000334198:F409L;ENSP00000351401:F409L	ENSP00000334198:F409L	F	+	3	2	CACNA1H	1191678	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.656000	0.54467	1.915000	0.55452	0.443000	0.29094	TTC	CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.627	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	25	0.00	0	C	NM_001005407		1251677	1251677	+1	no_errors	ENST00000348261	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	A
CKS1B	1163	genome.wustl.edu	37	1	154950513	154950513	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr1:154950513T>G	ENST00000308987.5	+	2	157	c.110T>G	c.(109-111)cTg>cGg	p.L37R	MIR4258_ENST00000580920.1_RNA|CKS1B_ENST00000368439.1_Missense_Mutation_p.L21R|CKS1B_ENST00000471245.1_3'UTR|CKS1B_ENST00000368436.1_Missense_Mutation_p.L37R	NM_001826.2	NP_001817.1	P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	37					cell division (GO:0051301)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAAACCCATCTGATGTCTGAA	0.463																																						dbGAP											0													84.0	78.0	80.0					1																	154950513		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC007751	CCDS1077.1	1q21.2	2011-04-28	2002-10-07		ENSG00000173207	ENSG00000173207			19083	protein-coding gene	gene with protein product		116900	"""CDC28 protein kinase 1B"""			2227411	Standard	NM_001826		Approved	ckshs1, CKS1	uc001fgb.3	P61024	OTTHUMG00000037413	ENST00000308987.5:c.110T>G	1.37:g.154950513T>G	ENSP00000311083:p.Leu37Arg		P33551	Missense_Mutation	SNP	pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub	p.L37R	ENST00000308987.5	37	c.110	CCDS1077.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.901506	0.92035	.	.	ENSG00000173207	ENST00000368439;ENST00000368436;ENST00000308987	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.76456	0.3990	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.80350	-0.1419	8	0.87932	D	0	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	37	P61024	CKS1_HUMAN	R	21;37;37	.	ENSP00000311083:L37R	L	+	2	0	CKS1B	153217137	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.526000	0.81920	2.371000	0.80710	0.533000	0.62120	CTG	CKS1B	-	pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub	ENSG00000173207		0.463	CKS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKS1B	HGNC	protein_coding	OTTHUMT00000091078.1	118	0.00	0	T	NM_001826		154950513	154950513	+1	no_errors	ENST00000308987	ensembl	human	known	69_37n	missense	170	15.84	32	SNP	1.000	G
COG3	83548	genome.wustl.edu	37	13	46065553	46065553	+	Silent	SNP	A	A	G			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr13:46065553A>G	ENST00000349995.5	+	10	1087	c.975A>G	c.(973-975)caA>caG	p.Q325Q		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	325					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TCAGATACCAACAACTGCTAA	0.383																																					Ovarian(150;1048 1859 18083 21577 42700)	dbGAP											0													129.0	119.0	122.0					13																	46065553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.975A>G	13.37:g.46065553A>G			B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	pfam_COG_su3,superfamily_Cullin_repeat-like_dom	p.Q325	ENST00000349995.5	37	c.975	CCDS9398.1	13																																																																																			COG3	-	NULL	ENSG00000136152		0.383	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG3	HGNC	protein_coding	OTTHUMT00000044777.2	88	0.00	0	A			46065553	46065553	+1	no_errors	ENST00000349995	ensembl	human	known	69_37n	silent	46	32.35	22	SNP	0.888	G
CUBN	8029	genome.wustl.edu	37	10	16960643	16960643	+	Silent	SNP	T	T	C	rs200190000		TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr10:16960643T>C	ENST00000377833.4	-	45	7043	c.6978A>G	c.(6976-6978)ggA>ggG	p.G2326G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2326	CUB 16. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCCTTGAATCCCACATGTG	0.378													T|||	1	0.000199681	0.0	0.0014	5008	,	,		17386	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													58.0	53.0	55.0					10																	16960643		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6978A>G	10.37:g.16960643T>C			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.G2326	ENST00000377833.4	37	c.6978	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	32	0.00	0	T	NM_001081		16960643	16960643	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	silent	28	41.67	20	SNP	0.842	C
CXorf40B	541578	genome.wustl.edu	37	X	149100974	149100974	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chrX:149100974T>A	ENST00000370406.3	-	5	1093	c.265A>T	c.(265-267)Att>Ttt	p.I89F	CXorf40B_ENST00000462691.1_Missense_Mutation_p.I89F|CXorf40B_ENST00000355203.2_Missense_Mutation_p.I89F|CXorf40B_ENST00000370404.1_Missense_Mutation_p.I89F|XX-FW81066F1.2_ENST00000457775.1_RNA			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	89										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCCCCAATGTCAACGAGT	0.468																																						dbGAP											0													71.0	62.0	65.0					X																	149100974		2201	4295	6496	-	-	-	SO:0001583	missense	0			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.265A>T	X.37:g.149100974T>A	ENSP00000359434:p.Ile89Phe			Missense_Mutation	SNP	superfamily_PUA-like_domain	p.I89F	ENST00000370406.3	37	c.265	CCDS35426.1	X	.	.	.	.	.	.	.	.	.	.	t	8.873	0.949769	0.18431	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	3.22	-1.23	0.09465	PUA-like domain (1);	0.428711	0.25792	N	0.028276	T	0.16854	0.0405	M	0.67953	2.075	0.40255	D	0.978114	P	0.36837	0.571	B	0.33799	0.17	T	0.03807	-1.1002	10	0.72032	D	0.01	-1.5671	4.4173	0.11463	0.0:0.3182:0.1684:0.5134	.	89	Q96DE9	CX04B_HUMAN	F	89	ENSP00000417546:I89F;ENSP00000359434:I89F;ENSP00000347339:I89F;ENSP00000359432:I89F	ENSP00000347339:I89F	I	-	1	0	CXorf40B	148851632	0.920000	0.31207	0.284000	0.24805	0.195000	0.23768	-0.150000	0.10189	-0.218000	0.10018	0.242000	0.17961	ATT	CXorf40B	-	superfamily_PUA-like_domain	ENSG00000197021		0.468	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf40B	HGNC	protein_coding	OTTHUMT00000082896.2	62	0.00	0	T	NP_001013867		149100974	149100974	-1	no_errors	ENST00000355203	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	0.990	A
DYTN	391475	genome.wustl.edu	37	2	207530593	207530593	+	Splice_Site	SNP	C	C	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr2:207530593C>A	ENST00000452335.2	-	10	1257		c.e10+1			NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin							plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ACATTTTATACCTGTAGGTCC	0.463																																						dbGAP											0													184.0	176.0	179.0					2																	207530593		1938	4144	6082	-	-	-	SO:0001630	splice_region_variant	0			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1140+1G>T	2.37:g.207530593C>A				Splice_Site	SNP	-	e10+1	ENST00000452335.2	37	c.1140+1	CCDS46502.1	2	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342817	0.24339	.	.	ENSG00000232125	ENST00000452335	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2733	0.60175	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DYTN	207238838	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	3.600000	0.54052	2.590000	0.87494	0.555000	0.69702	.	DYTN	-	-	ENSG00000232125		0.463	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	HGNC	protein_coding	OTTHUMT00000336799.1	77	0.00	0	C		Intron	207530593	207530593	-1	no_errors	ENST00000452335	ensembl	human	known	69_37n	splice_site	91	18.02	20	SNP	1.000	A
EFNA1	1942	genome.wustl.edu	37	1	155103837	155103837	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr1:155103837A>G	ENST00000368407.3	+	2	633	c.115A>G	c.(115-117)Ata>Gta	p.I39V	EFNA1_ENST00000368406.2_Missense_Mutation_p.I39V|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	39	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGACTACACCATACATGTGCA	0.522																																						dbGAP											0													108.0	83.0	92.0					1																	155103837		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.115A>G	1.37:g.155103837A>G	ENSP00000357392:p.Ile39Val		D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.I39V	ENST00000368407.3	37	c.115	CCDS1091.1	1	.	.	.	.	.	.	.	.	.	.	A	1.262	-0.615677	0.03663	.	.	ENSG00000169242	ENST00000368407;ENST00000368406	D;D	0.92752	-3.1;-3.1	5.22	3.34	0.38264	Cupredoxin (2);	0.112829	0.64402	N	0.000014	T	0.51398	0.1672	N	0.01091	-1.02	0.30991	N	0.721422	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41734	-0.9492	10	0.05525	T	0.97	-0.6964	9.316	0.37934	0.1815:0.0:0.8185:0.0	.	39;39	P20827-2;P20827	.;EFNA1_HUMAN	V	39	ENSP00000357392:I39V;ENSP00000357391:I39V	ENSP00000357391:I39V	I	+	1	0	EFNA1	153370461	1.000000	0.71417	0.017000	0.16124	0.643000	0.38383	6.339000	0.72969	0.684000	0.31448	-0.242000	0.12053	ATA	EFNA1	-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	ENSG00000169242		0.522	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA1	HGNC	protein_coding	OTTHUMT00000085428.1	27	0.00	0	A	NM_004428		155103837	155103837	+1	no_errors	ENST00000368407	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	0.843	G
F13A1	2162	genome.wustl.edu	37	6	6182294	6182294	+	Silent	SNP	C	C	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr6:6182294C>A	ENST00000264870.3	-	11	1651	c.1386G>T	c.(1384-1386)ggG>ggT	p.G462G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	462					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CAATTAATTTCCCAATGTGGG	0.403																																						dbGAP											0													155.0	137.0	143.0					6																	6182294		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1386G>T	6.37:g.6182294C>A			Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.G462	ENST00000264870.3	37	c.1386	CCDS4496.1	6																																																																																			F13A1	-	NULL	ENSG00000124491		0.403	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	45	0.00	0	C	NM_000129		6182294	6182294	-1	no_errors	ENST00000264870	ensembl	human	known	69_37n	silent	51	32.00	24	SNP	0.998	A
FGD6	55785	genome.wustl.edu	37	12	95602823	95602823	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr12:95602823G>A	ENST00000343958.4	-	2	2460	c.2237C>T	c.(2236-2238)cCg>cTg	p.P746L	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.P746L|FGD6_ENST00000546711.1_Missense_Mutation_p.P746L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	746					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTCATACTCCGGTGCACAGAG	0.448																																						dbGAP											0													105.0	99.0	101.0					12																	95602823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2237C>T	12.37:g.95602823G>A	ENSP00000344446:p.Pro746Leu		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.P746L	ENST00000343958.4	37	c.2237	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569478	0.65765	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.75367	-0.83;-0.93;-0.9	5.77	5.77	0.91146	.	0.000000	0.48767	D	0.000180	D	0.85146	0.5630	M	0.64997	1.995	0.52501	D	0.999952	D	0.89917	1.0	D	0.69307	0.963	D	0.85677	0.1298	10	0.87932	D	0	-13.8793	19.9983	0.97395	0.0:0.0:1.0:0.0	.	746	Q6ZV73	FGD6_HUMAN	L	746	ENSP00000344446:P746L;ENSP00000450342:P746L;ENSP00000449005:P746L	ENSP00000344446:P746L	P	-	2	0	FGD6	94126954	1.000000	0.71417	0.648000	0.29521	0.982000	0.71751	4.478000	0.60230	2.724000	0.93272	0.561000	0.74099	CCG	FGD6	-	NULL	ENSG00000180263		0.448	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	32	0.00	0	G	NM_018351		95602823	95602823	-1	no_errors	ENST00000343958	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	0.981	A
FLNC	2318	genome.wustl.edu	37	7	128495365	128495365	+	Silent	SNP	C	C	T			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr7:128495365C>T	ENST00000325888.8	+	43	7509	c.7248C>T	c.(7246-7248)ctC>ctT	p.L2416L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.L2383L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2416	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACCAGCCTCCAGGTTTGTG	0.587																																						dbGAP											0													37.0	41.0	40.0					7																	128495365		2115	4248	6363	-	-	-	SO:0001819	synonymous_variant	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7248C>T	7.37:g.128495365C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.L2416	ENST00000325888.8	37	c.7248	CCDS43644.1	7																																																																																			FLNC	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	24	0.00	0	C			128495365	128495365	+1	no_errors	ENST00000325888	ensembl	human	known	69_37n	silent	25	19.35	6	SNP	0.998	T
FRMD3	257019	genome.wustl.edu	37	9	85881994	85881994	+	Intron	SNP	G	G	C			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr9:85881994G>C	ENST00000304195.3	-	14	1402				FRMD3_ENST00000376438.1_Intron|FRMD3_ENST00000465485.1_Intron|FRMD3_ENST00000376434.1_Intron|FRMD3_ENST00000328788.1_Missense_Mutation_p.N33K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TGTTGCAGTGGTTCACCATGT	0.522																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1196-18563C>G	9.37:g.85881994G>C			A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	NULL	p.N33K	ENST00000304195.3	37	c.99	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555150	0.65425	.	.	ENSG00000172159	ENST00000328788	T	0.52057	0.68	5.21	3.37	0.38596	.	.	.	.	.	T	0.66076	0.2753	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67480	-0.5660	8	0.87932	D	0	.	9.8547	0.41079	0.1585:0.0:0.8415:0.0	.	33	A2A2Y4-4	.	K	33	ENSP00000328615:N33K	ENSP00000328615:N33K	N	-	3	2	FRMD3	85071814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.616000	0.46376	0.707000	0.31934	0.551000	0.68910	AAC	FRMD3	-	NULL	ENSG00000172159		0.522	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	50	0.00	0	G	NM_174938		85881994	85881994	-1	no_errors	ENST00000328788	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	1.000	C
GABRG1	2565	genome.wustl.edu	37	4	46066490	46066490	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr4:46066490T>C	ENST00000295452.4	-	5	760	c.593A>G	c.(592-594)gAt>gGt	p.D198G		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	198					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGAATGTTCATCCATGGGAAA	0.274																																						dbGAP											0													69.0	77.0	74.0					4																	46066490		2202	4288	6490	-	-	-	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.593A>G	4.37:g.46066490T>C	ENSP00000295452:p.Asp198Gly		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D198G	ENST00000295452.4	37	c.593	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548509	0.86127	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.92048	-2.96	5.8	5.8	0.92144	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99129	1.0852	10	0.87932	D	0	.	15.3192	0.74109	0.0:0.0:0.0:1.0	.	198	Q8N1C3	GBRG1_HUMAN	G	198	ENSP00000295452:D198G	ENSP00000295452:D198G	D	-	2	0	GABRG1	45761247	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.246000	0.72405	2.203000	0.70933	0.459000	0.35465	GAT	GABRG1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000163285		0.274	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	61	0.00	0	T	NM_173536		46066490	46066490	-1	no_errors	ENST00000295452	ensembl	human	known	69_37n	missense	42	15.69	8	SNP	1.000	C
HOMER2	9455	genome.wustl.edu	37	15	83561570	83561570	+	Missense_Mutation	SNP	C	C	T	rs560032927		TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr15:83561570C>T	ENST00000304231.8	-	2	221	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	HOMER2_ENST00000399166.2_Missense_Mutation_p.R10Q|HOMER2_ENST00000450735.2_Missense_Mutation_p.R10Q|HOMER2_ENST00000426485.1_Missense_Mutation_p.R10Q	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	10	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						GACATGCGCTCGGGTGGTGAA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		17377	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													132.0	132.0	132.0					15																	83561570		2000	4169	6169	-	-	-	SO:0001583	missense	0			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.29G>A	15.37:g.83561570C>T	ENSP00000305632:p.Arg10Gln		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.R10Q	ENST00000304231.8	37	c.29	CCDS45334.1	15	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952233	0.73787	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	5.74	5.74	0.90152	EVH1 (3);Pleckstrin homology-type (1);	0.049941	0.85682	D	0.000000	D	0.97411	0.9153	M	0.69248	2.105	0.46499	D	0.999075	P;D;D;D	0.67145	0.746;0.996;0.986;0.996	B;B;B;B	0.43950	0.128;0.437;0.176;0.437	D	0.96030	0.9016	10	0.33940	T	0.23	.	12.2624	0.54658	0.0:0.9233:0.0:0.0767	.	10;10;10;10	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	Q	10	ENSP00000305632:R10Q;ENSP00000407634:R10Q;ENSP00000394293:R10Q;ENSP00000382119:R10Q	ENSP00000305632:R10Q	R	-	2	0	HOMER2	81352574	1.000000	0.71417	0.985000	0.45067	0.999000	0.98932	4.001000	0.57046	2.712000	0.92718	0.650000	0.86243	CGA	HOMER2	-	pfam_EVH1,smart_EVH1,pfscan_EVH1	ENSG00000103942		0.483	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOMER2	HGNC	protein_coding	OTTHUMT00000418689.1	57	0.00	0	C			83561570	83561570	-1	no_errors	ENST00000304231	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	1.000	T
HRH2	3274	genome.wustl.edu	37	5	175111006	175111006	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr5:175111006G>A	ENST00000231683.2	+	1	2543	c.770G>A	c.(769-771)cGt>cAt	p.R257H	HRH2_ENST00000377291.2_Missense_Mutation_p.R257H	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	257					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TTTGTGTACCGTGGGCTGAGA	0.577																																						dbGAP											0													129.0	109.0	116.0					5																	175111006		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.770G>A	5.37:g.175111006G>A	ENSP00000231683:p.Arg257His		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H2_recept,prints_7TM_GPCR_Rhodpsn,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.R257H	ENST00000231683.2	37	c.770	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758718	0.49468	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.72505	-0.66;-0.66	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.233271	0.37261	N	0.002166	T	0.76435	0.3987	L	0.46157	1.445	0.34920	D	0.748386	P;D	0.71674	0.844;0.998	P;D	0.67725	0.49;0.953	T	0.81525	-0.0893	10	0.45353	T	0.12	.	10.736	0.46126	0.0872:0.0:0.9128:0.0	.	257;257	P25021;Q7Z5R9	HRH2_HUMAN;.	H	257	ENSP00000366506:R257H;ENSP00000231683:R257H	ENSP00000231683:R257H	R	+	2	0	HRH2	175043612	1.000000	0.71417	0.963000	0.40424	0.557000	0.35523	3.935000	0.56560	2.292000	0.77174	0.455000	0.32223	CGT	HRH2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H2_recept,pfscan_GPCR_Rhodpsn_supfam	ENSG00000113749		0.577	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1	22	0.00	0	G			175111006	175111006	+1	no_errors	ENST00000377291	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	0.890	A
IGSF1	3547	genome.wustl.edu	37	X	130409566	130409566	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chrX:130409566G>T	ENST00000361420.3	-	16	3149	c.3070C>A	c.(3070-3072)Ccc>Acc	p.P1024T	IGSF1_ENST00000370903.3_Missense_Mutation_p.P1029T|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1015T|IGSF1_ENST00000370904.1_Missense_Mutation_p.P1015T|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1024	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTGGTGATGGGGAATGCCCCG	0.527																																						dbGAP											0													136.0	113.0	121.0					X																	130409566		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3070C>A	X.37:g.130409566G>T	ENSP00000355010:p.Pro1024Thr		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P1029T	ENST00000361420.3	37	c.3085	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	0.722	-0.783001	0.02907	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	4.67	0.875	0.19130	Immunoglobulin-like fold (1);	0.474034	0.18132	N	0.150697	T	0.09468	0.0233	L	0.42487	1.325	0.09310	N	1	B;B;B	0.31459	0.277;0.123;0.324	B;B;B	0.39617	0.099;0.262;0.305	T	0.32640	-0.9899	10	0.23891	T	0.37	.	3.1249	0.06403	0.3173:0.0:0.4924:0.1902	.	1015;468;1024	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	T	1015;1024;1015;1029	ENSP00000359947:P1015T;ENSP00000355010:P1024T;ENSP00000359941:P1015T;ENSP00000359940:P1029T	ENSP00000355010:P1024T	P	-	1	0	IGSF1	130237247	0.001000	0.12720	0.113000	0.21522	0.209000	0.24338	-0.149000	0.10204	0.021000	0.15133	0.600000	0.82982	CCC	IGSF1	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000147255		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	71	0.00	0	G			130409566	130409566	-1	no_errors	ENST00000370903	ensembl	human	known	69_37n	missense	50	32.43	24	SNP	0.081	T
KITLG	4254	genome.wustl.edu	37	12	88928486	88928486	+	Intron	SNP	C	C	T	rs534880565		TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr12:88928486C>T	ENST00000228280.5	-	3	312				KITLG_ENST00000347404.5_Intron|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand						cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CCAGACATGACGGCATTTTTG	0.423									Testicular Cancer, Familial Clustering of				C|||	1	0.000199681	0.0	0.0014	5008	,	,		19119	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													42.0	38.0	39.0					12																	88928486		876	1991	2867	-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.130-2206G>A	12.37:g.88928486C>T			A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Silent	SNP	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF	p.P2	ENST00000228280.5	37	c.6	CCDS31868.1	12																																																																																			KITLG	-	superfamily_4_helix_cytokine-like_core	ENSG00000049130		0.423	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KITLG	HGNC	protein_coding	OTTHUMT00000406424.2	58	0.00	0	C	NM_003994		88928486	88928486	-1	no_errors	ENST00000378535	ensembl	human	putative	69_37n	silent	36	42.86	27	SNP	0.002	T
KPNA7	402569	genome.wustl.edu	37	7	98792809	98792809	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr7:98792809G>A	ENST00000327442.6	-	4	476	c.437C>T	c.(436-438)tCg>tTg	p.S146L		NM_001145715.1	NP_001139187.1	A9QM74	IMA8_HUMAN	karyopherin alpha 7 (importin alpha 8)	146					cytokine-mediated signaling pathway (GO:0019221)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(3)|endometrium(2)|kidney(1)|prostate(1)|skin(1)	8						AGTCTGCTCCGAAGTCCCTGA	0.582																																						dbGAP											0													66.0	61.0	62.0					7																	98792809		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47651.1	7q22.1	2013-02-14			ENSG00000185467	ENSG00000185467		"""Importins"", ""Armadillo repeat containing"""	21839	protein-coding gene	gene with protein product		614107					Standard	NM_001145715		Approved		uc010lft.2	A9QM74	OTTHUMG00000154412	ENST00000327442.6:c.437C>T	7.37:g.98792809G>A	ENSP00000330878:p.Ser146Leu		A4D277	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.S146L	ENST00000327442.6	37	c.437	CCDS47651.1	7	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028465	0.54790	.	.	ENSG00000185467	ENST00000327442	T	0.71579	-0.58	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.056501	0.64402	D	0.000001	D	0.87842	0.6279	M	0.92026	3.265	0.34568	D	0.713134	D	0.89917	1.0	D	0.77557	0.99	D	0.92835	0.6283	10	0.87932	D	0	-0.7186	18.5479	0.91054	0.0:0.0:1.0:0.0	.	146	A9QM74	IMA8_HUMAN	L	146	ENSP00000330878:S146L	ENSP00000330878:S146L	S	-	2	0	KPNA7	98630745	1.000000	0.71417	0.025000	0.17156	0.266000	0.26442	6.489000	0.73641	2.641000	0.89580	0.561000	0.74099	TCG	KPNA7	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000185467		0.582	KPNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA7	HGNC	protein_coding	OTTHUMT00000335118.1	25	0.00	0	G	NM_001145715		98792809	98792809	-1	no_errors	ENST00000327442	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	0.308	A
MCC	4163	genome.wustl.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup		D3DT05|Q6ZR04	In_Frame_Ins	INS	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.21in_frame_insG	ENST00000408903.3	37	c.64_63	CCDS43351.1	5																																																																																			MCC	-	NULL	ENSG00000171444		0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000370839.1	9	0.00	0	-	NM_001085377		112824048	112824049	-1	no_errors	ENST00000408903	ensembl	human	putative	69_37n	in_frame_ins	5	28.57	2	INS	0.854:0.894	GCC
MYLK4	340156	genome.wustl.edu	37	6	2685633	2685633	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr6:2685633C>T	ENST00000274643.7	-	6	784	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	MYLK4_ENST00000268446.5_Missense_Mutation_p.V148M	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCGTTCTTCACCTCCTCCTGA	0.557																																						dbGAP											0													222.0	179.0	193.0					6																	2685633		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.442G>A	6.37:g.2685633C>T	ENSP00000274643:p.Val148Met		A2RUC0|Q5TAW2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V148M	ENST00000274643.7	37	c.442	CCDS34330.1	6	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949381	0.92660	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.41758	0.99;0.99	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41294	D	0.000917	T	0.44891	0.1315	N	0.25144	0.715	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.46261	-0.9204	10	0.52906	T	0.07	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	148	Q86YV6	MYLK4_HUMAN	M	148	ENSP00000268446:V148M;ENSP00000274643:V148M	ENSP00000268446:V148M	V	-	1	0	MYLK4	2630632	1.000000	0.71417	0.995000	0.50966	0.902000	0.53008	7.805000	0.86005	2.649000	0.89929	0.603000	0.83216	GTG	MYLK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000145949		0.557	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK4	HGNC	protein_coding	OTTHUMT00000039632.2	40	0.00	0	C	NM_001012418		2685633	2685633	-1	no_errors	ENST00000268446	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90388353	90388353	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr6:90388353G>T	ENST00000369393.3	-	75	12492	c.12377C>A	c.(12376-12378)gCt>gAt	p.A4126D	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.A4126D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4126					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCTGACAAAGCTCGCTGTTT	0.448																																						dbGAP											0													189.0	170.0	176.0					6																	90388353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12377C>A	6.37:g.90388353G>T	ENSP00000358400:p.Ala4126Asp		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.A4126D	ENST00000369393.3	37	c.12377	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481344	0.44147	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04809	3.55;3.55	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02190	-1.1198	10	0.72032	D	0.01	.	18.1211	0.89572	0.0:0.0:1.0:0.0	.	4126	Q9NU22	MDN1_HUMAN	D	4126	ENSP00000358400:A4126D;ENSP00000413970:A4126D	ENSP00000358400:A4126D	A	-	2	0	MDN1	90445074	1.000000	0.71417	0.996000	0.52242	0.090000	0.18270	9.303000	0.96183	2.277000	0.76020	0.561000	0.74099	GCT	MDN1	-	pirsf_Midasin	ENSG00000112159		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	52	0.00	0	G			90388353	90388353	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	1.000	T
NKX2-2	4821	genome.wustl.edu	37	20	21492969	21492969	+	Silent	SNP	C	C	T			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr20:21492969C>T	ENST00000377142.4	-	2	770	c.414G>A	c.(412-414)gcG>gcA	p.A138A	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	138					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGTAGGTCTGCGCCTTGGAGA	0.697																																						dbGAP											0													21.0	24.0	23.0					20																	21492969		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.414G>A	20.37:g.21492969C>T				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A138	ENST00000377142.4	37	c.414	CCDS13145.1	20																																																																																			NKX2-2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000125820		0.697	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	87	0.00	0	C			21492969	21492969	-1	no_errors	ENST00000377142	ensembl	human	known	69_37n	silent	76	10.59	9	SNP	1.000	T
NMT1	4836	genome.wustl.edu	37	17	43138787	43138787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr17:43138787C>A	ENST00000592782.1	+	2	221	c.90C>A	c.(88-90)tgC>tgA	p.C30*	NMT1_ENST00000590114.1_3'UTR|DCAKD_ENST00000342350.5_5'Flank|NMT1_ENST00000258960.2_Nonsense_Mutation_p.C30*|DCAKD_ENST00000310604.4_5'Flank			P30419	NMT1_HUMAN	N-myristoyltransferase 1	30					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				ATGAGCACTGCAGCGATTGCG	0.607																																						dbGAP											0													79.0	65.0	70.0					17																	43138787		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.90C>A	17.37:g.43138787C>A	ENSP00000468424:p.Cys30*		A8K7C1|Q9UE09	Nonsense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.C30*	ENST00000592782.1	37	c.90	CCDS11494.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.527680	0.97637	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8595	13.2073	0.59805	0.0:0.9272:0.0:0.0728	.	.	.	.	X	30	.	ENSP00000258960:C30X	C	+	3	2	NMT1	40494313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.915000	0.48805	2.826000	0.97356	0.655000	0.94253	TGC	NMT1	-	pirsf_MyristoylCoA_TrFase	ENSG00000136448		0.607	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	42	0.00	0	C	NM_021079		43138787	43138787	+1	no_errors	ENST00000258960	ensembl	human	known	69_37n	nonsense	12	45.45	10	SNP	1.000	A
OR10G2	26534	genome.wustl.edu	37	14	22102916	22102916	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr14:22102916C>G	ENST00000542433.1	-	1	180	c.83G>C	c.(82-84)aGa>aCa	p.R28T		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GAGGAGGCTTCTTAGATTTGG	0.493																																						dbGAP											0													88.0	86.0	87.0					14																	22102916		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.83G>C	14.37:g.22102916C>G	ENSP00000445383:p.Arg28Thr		B2RPD0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R28T	ENST00000542433.1	37	c.83	CCDS32047.1	14	.	.	.	.	.	.	.	.	.	.	c	4.008	-0.001149	0.07819	.	.	ENSG00000255582	ENST00000542433	T	0.00441	7.41	3.79	0.953	0.19590	.	0.328709	0.21957	N	0.066654	T	0.00384	0.0012	M	0.64676	1.99	0.09310	N	1	B	0.33777	0.425	B	0.37550	0.253	T	0.45556	-0.9253	10	0.72032	D	0.01	-1.1821	3.4358	0.07445	0.0:0.465:0.1992:0.3358	.	28	Q8NGC3	O10G2_HUMAN	T	28	ENSP00000445383:R28T	ENSP00000445383:R28T	R	-	2	0	OR10G2	21172756	0.000000	0.05858	0.001000	0.08648	0.240000	0.25518	-0.059000	0.11731	0.002000	0.14630	-0.215000	0.12644	AGA	OR10G2	-	NULL	ENSG00000255582		0.493	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	HGNC	protein_coding	OTTHUMT00000401525.1	17	0.00	0	C			22102916	22102916	-1	no_errors	ENST00000542433	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.000	G
ORC5	5001	genome.wustl.edu	37	7	103801544	103801544	+	Silent	SNP	A	A	G			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr7:103801544A>G	ENST00000297431.4	-	12	1267	c.1125T>C	c.(1123-1125)gcT>gcC	p.A375A	ORC5_ENST00000545943.1_Silent_p.A243A	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	375					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTGCTGTTGGAGCAACTCTGC	0.358																																						dbGAP											0													123.0	125.0	125.0					7																	103801544		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.1125T>C	7.37:g.103801544A>G			A4D0P8|O60590|O95268	Silent	SNP	NULL	p.A375	ENST00000297431.4	37	c.1125	CCDS5734.1	7																																																																																			ORC5	-	NULL	ENSG00000164815		0.358	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC5	HGNC	protein_coding	OTTHUMT00000348286.1	47	0.00	0	A	NM_002553		103801544	103801544	-1	no_errors	ENST00000297431	ensembl	human	known	69_37n	silent	43	27.12	16	SNP	1.000	G
OTX2	5015	genome.wustl.edu	37	14	57270978	57270978	+	Silent	SNP	C	C	T			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr14:57270978C>T	ENST00000555006.1	-	3	585	c.177G>A	c.(175-177)aaG>aaA	p.K59K	OTX2_ENST00000554788.1_Intron|OTX2_ENST00000408990.3_Silent_p.K59K|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000339475.5_Silent_p.K67K			P32243	OTX2_HUMAN	orthodenticle homeobox 2	59					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GGTACCGGGTCTTGGCAAACA	0.607																																						dbGAP											0													89.0	73.0	79.0					14																	57270978		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.177G>A	14.37:g.57270978C>T			B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Silent	SNP	pfam_Otx_TF_C,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Otx2_TF,prints_Otx_TF,pfscan_Homeodomain	p.K67	ENST00000555006.1	37	c.201	CCDS41960.1	14																																																																																			OTX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000165588		0.607	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX2	HGNC	protein_coding	OTTHUMT00000411522.1	18	0.00	0	C	NM_021728.		57270978	57270978	-1	no_errors	ENST00000339475	ensembl	human	known	69_37n	silent	22	21.43	6	SNP	1.000	T
PGBD3	267004	genome.wustl.edu	37	10	50724809	50724809	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr10:50724809C>T	ENST00000374127.3	-	2	553	c.352G>A	c.(352-354)Gac>Aac	p.D118N	PGBD3_ENST00000603152.1_Missense_Mutation_p.D586N|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.D586N|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D586N|PGBD3_ENST00000508005.2_Missense_Mutation_p.D118N	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	118								p.D118N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACAGTTAGGTCGGCTTTTTTC	0.423																																						dbGAP											1	Substitution - Missense(1)	lung(1)											147.0	137.0	140.0					10																	50724809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.352G>A	10.37:g.50724809C>T	ENSP00000363242:p.Asp118Asn		B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	NULL	p.D118N	ENST00000374127.3	37	c.352	CCDS7230.1	10	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997814	0.35226	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.14640	2.49;2.49;3.37;3.37	0.468	0.468	0.16732	.	.	.	.	.	T	0.10337	0.0253	N	0.19112	0.55	0.09310	N	1	D;B	0.53312	0.959;0.033	P;B	0.47705	0.555;0.0	T	0.30592	-0.9973	8	0.30078	T	0.28	-6.3091	.	.	.	.	586;118	E7EV46;Q8N328	.;PGBD3_HUMAN	N	118;118;586;586	ENSP00000363242:D118N;ENSP00000426963:D118N;ENSP00000423550:D586N;ENSP00000387966:D586N	ENSP00000387966:D586N	D	-	1	0	PGBD3;RP11-123B3.6	50394815	0.925000	0.31364	0.018000	0.16275	0.017000	0.09413	1.799000	0.38824	0.488000	0.27723	0.491000	0.48974	GAC	PGBD3	-	NULL	ENSG00000243251		0.423	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PGBD3	HGNC	protein_coding	OTTHUMT00000047988.1	86	0.00	0	C			50724809	50724809	-1	no_errors	ENST00000374127	ensembl	human	known	69_37n	missense	58	52.07	63	SNP	0.334	T
PLA2R1	22925	genome.wustl.edu	37	2	160901625	160901625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr2:160901625G>T	ENST00000283243.7	-	2	359	c.153C>A	c.(151-153)tgC>tgA	p.C51*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.C51*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	51	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGCTTGAATGCATTTCTTGA	0.373																																						dbGAP											0													55.0	53.0	54.0					2																	160901625		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.153C>A	2.37:g.160901625G>T	ENSP00000283243:p.Cys51*		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.C51*	ENST00000283243.7	37	c.153	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.836501	0.97009	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	.	.	.	6.17	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9505	0.35785	0.2728:0.0:0.7271:0.0	.	.	.	.	X	51	.	ENSP00000283243:C51X	C	-	3	2	PLA2R1	160609871	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	2.319000	0.43788	0.953000	0.37825	0.655000	0.94253	TGC	PLA2R1	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000153246		0.373	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	28	0.00	0	G			160901625	160901625	-1	no_errors	ENST00000283243	ensembl	human	known	69_37n	nonsense	22	15.38	4	SNP	1.000	T
PPP6R2	9701	genome.wustl.edu	37	22	50879477	50879477	+	Intron	SNP	C	C	G			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr22:50879477C>G	ENST00000216061.5	+	23	2970				PPP6R2_ENST00000395741.3_Intron|PPP6R2_ENST00000359139.3_Intron|PPP6R2_ENST00000395744.3_Intron			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2							cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GTGGCGGGGGCGGGCCTGCCG	0.721																																						dbGAP											0													4.0	5.0	5.0					22																	50879477		1996	3948	5944	-	-	-	SO:0001627	intron_variant	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2600+22C>G	22.37:g.50879477C>G			A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	RNA	SNP	-	NULL	ENST00000216061.5	37	NULL		22																																																																																			PPP6R2	-	-	ENSG00000100239		0.721	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	32	0.00	0	C	NM_014678		50879477	50879477	+1	no_errors	ENST00000473283	ensembl	human	putative	69_37n	rna	24	20.00	6	SNP	0.012	G
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC				RNA	DEL	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		41	0.00	0	C			10037863	10037863	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	22	11.11	3	DEL	1.000	-
RRBP1	6238	genome.wustl.edu	37	20	17594817	17594817	+	3'UTR	SNP	A	A	G			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr20:17594817A>G	ENST00000377813.1	-	0	4546				RRBP1_ENST00000360807.4_3'UTR|RRBP1_ENST00000377807.2_3'UTR|RRBP1_ENST00000246043.4_3'UTR|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000455029.2_3'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1						osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCTTTTTCCAAAGAGGAAACT	0.522																																						dbGAP											0													105.0	113.0	111.0					20																	17594817		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.*10T>C	20.37:g.17594817A>G			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	RNA	SNP	-	NULL	ENST00000377813.1	37	NULL		20																																																																																			RRBP1	-	-	ENSG00000125844		0.522	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	19	0.00	0	A	NM_001042576		17594817	17594817	-1	no_errors	ENST00000468428	ensembl	human	known	69_37n	rna	13	38.10	8	SNP	0.000	G
RYR1	6261	genome.wustl.edu	37	19	38954140	38954140	+	Silent	SNP	C	C	T			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr19:38954140C>T	ENST00000359596.3	+	21	2655	c.2655C>T	c.(2653-2655)cgC>cgT	p.R885R	RYR1_ENST00000360985.3_Silent_p.R885R|RYR1_ENST00000355481.4_Silent_p.R885R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	885	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGCTAACCCGCATCGAGCAGG	0.677																																						dbGAP											0													31.0	30.0	30.0					19																	38954140		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2655C>T	19.37:g.38954140C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R885	ENST00000359596.3	37	c.2655	CCDS33011.1	19																																																																																			RYR1	-	pfam_Ryanodine_rcpt,prints_Ryan_recept	ENSG00000196218		0.677	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	56	0.00	0	C			38954140	38954140	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	41	33.87	21	SNP	0.986	T
SEPT5	5413	genome.wustl.edu	37	22	19708174	19708174	+	Silent	SNP	G	G	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr22:19708174G>A	ENST00000455784.2	+	7	725	c.600G>A	c.(598-600)cgG>cgA	p.R200R	SEPT5_ENST00000438754.2_Silent_p.R209R|SEPT5_ENST00000383045.3_Silent_p.R209R|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Silent_p.R200R	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	200	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GTGAGATCCGGAAGCTGAAGG	0.597																																						dbGAP											0													52.0	49.0	50.0					22																	19708174		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.600G>A	22.37:g.19708174G>A			O15251|Q96MY5	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.E66K	ENST00000455784.2	37	c.196	CCDS13764.1	22	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585679	0.13749	.	.	ENSG00000184702	ENST00000413258	.	.	.	3.13	2.11	0.27256	.	.	.	.	.	T	0.52757	0.1754	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44726	-0.9309	4	.	.	.	.	6.0355	0.19706	0.1138:0.195:0.6913:0.0	.	.	.	.	K	66	.	.	E	+	1	0	SEPT5	18088174	0.995000	0.38212	1.000000	0.80357	0.555000	0.35460	0.355000	0.20163	0.879000	0.35944	0.313000	0.20887	GAA	SEPT5	-	pfam_Cell_div_GTP-bd	ENSG00000184702		0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1	38	0.00	0	G	NM_002688		19708174	19708174	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000413258	ensembl	human	novel	69_37n	missense	38	38.71	24	SNP	1.000	A
SOX4	6659	genome.wustl.edu	37	6	21594936	21594936	+	Silent	SNP	G	G	T			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr6:21594936G>T	ENST00000244745.1	+	1	965	c.171G>T	c.(169-171)ggG>ggT	p.G57G	SOX4_ENST00000543472.1_Silent_p.G57G	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	57					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CCCCGAGTGGGCACATCAAGC	0.672																																						dbGAP											0													25.0	24.0	24.0					6																	21594936		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.171G>T	6.37:g.21594936G>T				Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily	p.G57	ENST00000244745.1	37	c.171	CCDS4547.1	6																																																																																			SOX4	-	superfamily_HMG_superfamily,pirsf_SOX-12/11/4a	ENSG00000124766		0.672	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX4	HGNC	protein_coding	OTTHUMT00000043301.1	15	0.00	0	G	NM_003107		21594936	21594936	+1	no_errors	ENST00000244745	ensembl	human	known	69_37n	silent	26	18.75	6	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577525	7577526	+	Frame_Shift_Ins	INS	-	-	A	rs121912653		TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr17:7577525_7577526insA	ENST00000269305.4	-	7	944_945	c.755_756insT	c.(754-756)ctcfs	p.L252fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.L252fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L252fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L252fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L252fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L252fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	252	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in a sporadic cancer; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|L -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L252P(10)|p.0?(8)|p.L252del(5)|p.L252_I254delLTI(4)|p.I251_T253delILT(4)|p.L252L(3)|p.L252H(2)|p.T253_I255del(2)|p.P250_L252delPIL(2)|p.L252_T253delLT(1)|p.T253fs*92(1)|p.?(1)|p.P250_T253delPILT(1)|p.L252fs*92(1)|p.T253fs*11(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGATGATGGTGAGGATGGGCCT	0.589		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	47	Deletion - In frame(20)|Substitution - Missense(12)|Whole gene deletion(8)|Substitution - coding silent(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)|Unknown(1)	stomach(7)|large_intestine(6)|skin(6)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|bone(4)|central_nervous_system(3)|peritoneum(2)|breast(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|oesophagus(1)|ovary(1)	GRCh37	CM900212	TP53	M	rs121912653																																			-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.756dupT	17.37:g.7577526_7577526dupA	ENSP00000269305:p.Leu252fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.T253fs	ENST00000269305.4	37	c.756_755	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.589	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	48	0.00	0	-	NM_000546		7577525	7577526	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_ins	28	34.88	15	INS	1.000:1.000	A
ATG7	10533	genome.wustl.edu	37	3	11600885	11600885	+	IGR	SNP	G	G	C			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr3:11600885G>C	ENST00000354449.3	+	0	4959				VGLL4_ENST00000451674.2_Missense_Mutation_p.N94K|VGLL4_ENST00000413604.1_Missense_Mutation_p.N115K|VGLL4_ENST00000404339.1_Missense_Mutation_p.N179K|VGLL4_ENST00000424529.2_Missense_Mutation_p.N90K|VGLL4_ENST00000273038.3_Missense_Mutation_p.N174K|VGLL4_ENST00000430365.2_Missense_Mutation_p.N180K	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGAGGTTGCAGTTGCGGGCGC	0.706																																						dbGAP											0													21.0	21.0	21.0					3																	11600885		2160	4233	6393	-	-	-	SO:0001628	intergenic_variant	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600885G>C			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	smart_TDU_repeat	p.N180K	ENST00000354449.3	37	c.540	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	g	34	5.388652	0.95988	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339;ENST00000445411;ENST00000418000;ENST00000458499	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.58	5.58	0.84498	.	0.040721	0.85682	D	0.000000	T	0.67468	0.2896	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.998;0.998;0.999	D;D;D;D;D	0.91635	0.999;0.971;0.96;0.971;0.996	T	0.60835	-0.7184	10	0.22706	T	0.39	-54.7935	19.5707	0.95413	0.0:0.0:1.0:0.0	.	180;94;90;179;174	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	K	174;115;94;90;180;179;174;174;170	ENSP00000273038:N174K;ENSP00000404624:N115K;ENSP00000416615:N94K;ENSP00000402878:N90K;ENSP00000404251:N180K;ENSP00000384705:N179K;ENSP00000412923:N174K;ENSP00000394439:N174K;ENSP00000394123:N170K	ENSP00000273038:N174K	N	-	3	2	VGLL4	11575885	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.570000	0.73996	2.627000	0.88993	0.486000	0.48141	AAC	VGLL4	-	NULL	ENSG00000144560		0.706	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL4	HGNC	protein_coding	OTTHUMT00000251951.3	75	0.00	0	G	NM_006395		11600885	11600885	-1	no_errors	ENST00000430365	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	1.000	C
ZBTB21	49854	genome.wustl.edu	37	21	43413758	43413758	+	Silent	SNP	G	G	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr21:43413758G>A	ENST00000310826.5	-	3	630	c.447C>T	c.(445-447)gtC>gtT	p.V149V	ZBTB21_ENST00000398505.3_Silent_p.V149V|ZBTB21_ENST00000398499.1_Silent_p.V149V|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Silent_p.V149V	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	149					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GACAAACAATGACACTTCTCT	0.408																																						dbGAP											0													113.0	99.0	104.0					21																	43413758		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.447C>T	21.37:g.43413758G>A			Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V149	ENST00000310826.5	37	c.447	CCDS13678.1	21																																																																																			ZNF295	-	NULL	ENSG00000173276		0.408	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	HGNC	protein_coding	OTTHUMT00000195308.1	55	0.00	0	G	NM_020727		43413758	43413758	-1	no_errors	ENST00000310826	ensembl	human	known	69_37n	silent	48	33.33	24	SNP	1.000	A
ZSWIM3	140831	genome.wustl.edu	37	20	44506183	44506183	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A409-01A-11D-A243-09	TCGA-B6-A409-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	61f61966-d139-4a02-9c5c-5598d5322407	d061e421-1f2b-4e80-8765-38016a91cbda	g.chr20:44506183G>A	ENST00000255152.2	+	2	1195	c.986G>A	c.(985-987)aGg>aAg	p.R329K	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R323K	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	329				R -> S (in Ref. 1; BAB71239). {ECO:0000305}.			zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TCCTTTAAAAGGCTCATGAAG	0.517																																						dbGAP											0													87.0	88.0	87.0					20																	44506183		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.986G>A	20.37:g.44506183G>A	ENSP00000255152:p.Arg329Lys		Q9BR13	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.R329K	ENST00000255152.2	37	c.986	CCDS13381.1	20	.	.	.	.	.	.	.	.	.	.	G	8.764	0.924280	0.18056	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.21543	2.02;2.0	5.65	0.268	0.15626	.	0.744416	0.13168	N	0.408524	T	0.09555	0.0235	L	0.27053	0.805	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.19666	0.026;0.026	T	0.37957	-0.9683	10	0.02654	T	1	-6.3566	3.8626	0.09002	0.2897:0.0:0.4302:0.28	.	323;329	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	K	329;323	ENSP00000255152:R329K;ENSP00000406313:R323K	ENSP00000255152:R329K	R	+	2	0	ZSWIM3	43939590	0.011000	0.17503	0.818000	0.32626	0.996000	0.88848	0.454000	0.21827	0.479000	0.27511	0.655000	0.94253	AGG	ZSWIM3	-	NULL	ENSG00000132801		0.517	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	27	0.00	0	G	NM_080752		44506183	44506183	+1	no_errors	ENST00000255152	ensembl	human	known	69_37n	missense	27	30.00	12	SNP	0.007	A
